|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD).
|
27000987 |
2016 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes.
|
26781211 |
2016 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes.
|
26781211 |
2016 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes.
|
26781211 |
2016 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six patients with sporadic SOD and 16 patients with CPHD from 14 pedigrees were screened for mutations in HESX1 and PROP1 genes by exon sequencing.
|
26111865 |
2015 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recent advances in central congenital hypothyroidism.
|
26416826 |
2015 |
|
Septo-Optic Dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
New insights into septo-optic dysplasia.
|
24802313 |
2014 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of HESX1 mutations in Kallmann syndrome.
|
23465708 |
2013 |
|
Septo-Optic Dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
|
21396578 |
2011 |
|
Septo-Optic Dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
|
21396578 |
2011 |
|
Septo-Optic Dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Septo-optic dysplasia.
|
19623216 |
2010 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD.
|
20694410 |
2010 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
|
19093031 |
2009 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
|
19093031 |
2009 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sixty patients with sporadic CPHD without septo-optic dysplasia were screened for mutations in HESX1.
|
19844116 |
2009 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding further supports the necessity to stay alert in evaluating a gene that plays a minor role in the pathogenesis of sporadic hypopituitarism, such as HESX1 gene even when the phenotype does not fit in with a classical SOD syndrome.
|
18852528 |
2008 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding pituitary transcription factors (mainly PROP1, POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency (CPHD) and septo-optic dysplasia (SOD) while only a low percentage of mutations are the cause of sporadic forms.
|
17315526 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.
|
17587179 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.
|
17587179 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.
|
17587179 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations within HESX1 are a rare cause of SOD and hypopituitarism.
|
17148560 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations within HESX1 are a rare cause of SOD and hypopituitarism.
|
17148560 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain.
|
17360769 |
2007 |
|
Septo-Optic Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in POUF-1, PROP1 and HESX1 are rare causes of CPHD and SOD, respectively, in children from the West Midlands.
|
15670191 |
2005 |
|
Septo-Optic Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HESX1 have been implicated in cases of septooptic dysplasia and congenital hypopituitarism.
|
14557462 |
2003 |